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Volumn 23, Issue 2, 2012, Pages 255-261

A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome

Author keywords

Denys Drash syndrome; Genital abnormality; Glomerulopathy; Missense mutation; Wilms' tumor; WT1 gene

Indexed keywords

WT1 PROTEIN;

EID: 84864469627     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (13)
  • 3
    • 0014119131 scopus 로고
    • Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism
    • DENYS P., MALVAUX P., VAN DEN BERGHE H., TANGHE W., PROESMANS W.: Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism. Arch. Fr. Pediatr., 1967, 24, 729-739.
    • (1967) Arch. Fr. Pediatr. , vol.24 , pp. 729-739
    • Denys, P.1    Malvaux, P.2    Van Den Berghe, H.3    Tanghe, W.4    Proesmans, W.5
  • 5
    • 0014775569 scopus 로고
    • A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease
    • DRASH A., SHERMAN F., HARTMANN W.H., BLIZZARD R.M.: A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. J. Pediatr., 1970, 76, 585-593.
    • (1970) J. Pediatr. , vol.76 , pp. 585-593
    • Drash, A.1    Sherman, F.2    Hartmann, W.H.3    Blizzard, R.M.4
  • 6
  • 7
    • 78651152965 scopus 로고
    • Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations
    • MILLER R.W., FRAUMENI J.F. JR., MANNING M.D.: Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations. N. Engl. J. Med., 1964, 270, 922-927.
    • (1964) N. Engl. J. Med. , vol.270 , pp. 922-927
    • Miller, R.W.1    Fraumeni Jr., J.F.2    Manning, M.D.3
  • 8
    • 0028337140 scopus 로고
    • The Denys-Drash syndrome
    • MUELLER R.F.: The Denys-Drash syndrome. J. Med. Genet., 1994, 31, 471-477.
    • (1994) J. Med. Genet. , vol.31 , pp. 471-477
    • Mueller, R.F.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.